Condition: Hypsarrhythmia
rs387906799
in
KIF1A
gene and
Hypsarrhythmia
PMID 26486474
2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs1557043622
in
SLC35A2
gene and
Hypsarrhythmia
PMID 30817854
2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.